Childhood onset nemaline myopathy, first described in 1963 by Shy, et al and Conen, et al, is rare congenital myopathy, characterized by nonprogressive or slowly progressive muscle weakness associated with rod-like structures in muscle fibers, often with dysmorphic features. This myopathy was confirmed by muscle biopsy. The light microscopic features noted generally small round fibers that showed variation in size and occasional internal nuclei and characteristic rod bodies that could be demonstrated in the longitudinal sections stained with modified Gomori trichrome stain. Electromicroscopically there were accumulations of numerous irregular electron dense materials scattered between the myofibrils, particularly under the sarcolemma and enlargement and streamimg of the Z disk. We report a case of childhood onset nemaline myopathy in Korea in a 7 year- old boy who had nonprogressive muscle weakness of the limbs with a waddling gait.
Biopsy ; Extremities ; Gait ; Humans ; Korea ; Male ; Muscle Weakness ; Muscular Diseases ; Myofibrils ; Myopathies, Nemaline* ; Sarcolemma

Ophthalmoplegia without ataxia has various etiologies. An atypical Miller Fisher syndrome implies an ophthalmoplegia without ataxia, areflexia or both. The presence of anti-GQ1b antibody supports the diagnosis of an atypical Miller Fisher syndrome. A 4-year-old Russian girl visited our hospital because of acute bilateral abducens nerve palsy and mydriasis. Although the muscle power of extremities was normal and she didn't show an ataxia, the deep tendon reflex of both knees and ankles was absent. The results of nerve conduction study and cerebrospinal fluid analysis were normal. Magnetic resonance imaging (MRI) showed an enhancement of the bilateral abducens nerve. The anti-Gq1b antibody titer was elevated. The diagnosis of atypical Miller Fisher syndrome was made and a therapy with intravenous immunoglobulins led to the clinical recovery. We report a girl with atypical Miller Fisher syndrome with acute bilateral abducens nerve palsy and mydriasis, diagnosed by of anti-GQ1b antibody positivity.
Abducens Nerve ; Abducens Nerve Diseases* ; Ankle ; Ataxia ; Cerebrospinal Fluid ; Child, Preschool ; Diagnosis ; Extremities ; Female ; Humans ; Immunoglobulins, Intravenous ; Knee ; Magnetic Resonance Imaging ; Miller Fisher Syndrome ; Mydriasis* ; Neural Conduction ; Ophthalmoplegia ; Reflex, Stretch

OBJECTIVE: To investigate the correlation between the Foot Posture Index (FPI) (including talar head palpation, curvature at the lateral malleoli, inversion/eversion of the calcaneus, talonavicular bulging, congruence of the medical longitudinal arch, and abduction/adduction of the forefoot on the rare foot), plantar pressure distribution, and pediatric flatfoot radiographic findings. METHODS: Nineteen children with flatfoot (age, 9.32+/-2.67 years) were included as the study group. Eight segments of plantar pressure were measured with the GaitView platform pressure pad and the FPI was measured in children. The four angles were measured on foot radiographs. We analyzed the correlation between the FPI, plantar pressure characteristics, and the radiographic angles in children with flatfoot. RESULTS: The ratio of hallux segment pressure and the second through fifth toe segment pressure was correlated with the FPI (r=0.385, p=0.017). The FPI was correlated with the lateral talo-first metatarsal angle (r=0.422, p=0.008) and calcaneal pitch (r=-0.411, p=0.01). CONCLUSION: Our results show a correlation between the FPI and plantar pressure. The FPI and pediatric flatfoot radiography are useful tools to evaluate pediatric flatfoot.
Calcaneus ; Child ; Flatfoot* ; Foot* ; Hallux ; Head ; Humans ; Metatarsal Bones ; Palpation ; Pediatrics ; Posture* ; Radiography ; Toes

Self expandable metal stent can be used both as palliative treatment for malignant colorectal obstruction and as a bridge to surgery in patients with potentially resectable colorectal cancer. Here, we report a case of successful relief of malignant stomal obstruction using a metal stent. A 56-year-old man underwent loop ileostomy and was given palliative chemotherapy for ascending colon cancer with peritoneal carcinomatosis. Eight months after the surgery, he complained of abdominal pain and decreased fecal output. Computed tomography and endoscopy revealed malignant stomal obstruction. Due to his poor clinical condition, we inserted the stent at the stomal orifice, instead of additional surgery, and his obstructive symptoms were successfully relieved. Stent insertion is thought to be a good alternative treatment for malignant stomal obstruction, instead of surgery.
Abdominal Pain ; Carcinoma ; Colon ; Colon, Ascending ; Colonic Neoplasms ; Colorectal Neoplasms ; Endoscopy ; Humans ; Ileostomy ; Middle Aged ; Palliative Care ; Stents

BACKGROUND: Visceral obesity is known as an independent risk factor of cardiovascular disease and metabolic syndrome. The objective of this study was to evaluate the association of ultrasonographic-determined visceral fat thickness and other parameters of obesity, metabolic syndrome, and risk factors of cardiovascular disease in type 2 diabetes. METHODS: A total of 191 type 2 diabetic patients (101 men and 90 women) participated in this study. Anthropometric, clinical, and laboratory data including the body mass index, waist circumference, blood pressure and lipid profiles were measured. Insulin resistance was calculated by using the homeostasis model assessment-insulin resistance (HOMA-IR). The visceral fat thickness was measured by abdominal ultrasonography at 1 cm above the umbilicus. RESULTS: The visceral fat thickness was positively correlated with the body mass index (p<0.001), waist circumference (p<0.001), fat mass (p<0.001), fat distribution (p<0.001), and HOMA-IR (p<0.05), whereas it was negatively correlated with theHDL-cholesterol level (p<0.05). The visceral fat thickness was better correlated with the presence of metabolic syndrome than with the subcutaneous fat thickness. The highest tertile of visceral fat thickness had a higher odds ratio for hypertension (OR=4.02, 95% CI 1.08~14.98), dyslipidemia (OR=9.64, 95% CI 1.08~85.37), and metabolic syndrome (OR=11.35, 95% CI 1.34~96.00) than did those in the lowest tertile, after adjustment for age, sex, and body mass index. CONCLUSIONS: The results of our study show that the measurement of abdominal visceral fat thickness using abdominal ultrasonography can be used as a reliable method to identify the risk for metabolic syndrome and cardiovascular disease in type 2 diabetic patients.
Blood Pressure ; Body Mass Index ; Cardiovascular Diseases ; Diabetes Mellitus, Type 2 ; Dyslipidemias ; Homeostasis ; Humans ; Hypertension ; Insulin Resistance ; Intra-Abdominal Fat* ; Male ; Obesity ; Obesity, Abdominal ; Odds Ratio ; Risk Factors* ; Subcutaneous Fat ; Ultrasonography ; Umbilicus ; Waist Circumference

Antithyroid drugs are the most common treatment modality for Graves' disease and are used for the treatment of relapsed Graves' disease in Korea. Agranulocytosis is a rare and severe complication of antithyroid drug therapy, and most cases occur within 3 month after drug treatment. Agranulocytosis can develop in patients who have relapsed Graves' disease and undergo a second course of antithyroid drugs with a prior uneventful course of drug therapy. We report a case of antithyroid drug-induced agranulocytosis in a relapsed Graves' disease patient who had undergone prior uneventful antithyroid drug therapy. We also present a review of the relevant literature.
Agranulocytosis ; Antithyroid Agents ; Graves Disease ; Humans ; Korea ; Recurrence

V. fluvialis is a gram-negative, oxidase-producing, halophilic bacterium. It is normally found in coastal waters and seafoods. There have been a few reports on Vibrio fluvialis gastroenteritis in other countries, whereas there has been no previous report of V. fluvialis infections in Korea. Reports from other countries showed that V. fluvialis was isolated mostly from infants and children. We experienced a rare case of gastroenteritis due to V. fluvialis in a 55-year-old man with liver cirrhosis who ate an ark shell. He was admitted due to mild abdominal pain and severe watery diarrhea followed by rapidly progressive dehydration, electrolyte imbalance, and hepatorenal syndrome for a week. This patient was not improved by intensive care and antibiotic therapy.
Abdominal Pain ; Arcidae ; Child ; Dehydration ; Diarrhea ; Gastroenteritis* ; Hepatorenal Syndrome ; Humans ; Infant ; Critical Care ; Korea ; Liver Cirrhosis ; Middle Aged ; Seafood ; Vibrio*

PURPOSE: Papillary thyroid carcinoma (PTC) is the most common malignant tumor of the thyroid and BRAFV600E mutation is the most frequent genetic alteration in PTC. BRAFV600E mutation has been demonstrated as a prognostic biomarker for prediction of poor clinicopathological outcomes, such as increased incidence of extrathyroidal extension, lymph node metastasis, and advanced stage. However, there is conflicting literature regarding the association of BRAFV600E mutation and aggressive clinicopathological features. In this study, we investigated the prevalence of BRAFV600E mutation in PTC and determined the association of BRAF mutation with indicators of poor prognosis for PTC. METHODS: We reviewed 1009 patients with PTC, who underwent thyroid surgery at Kyungpook National University Hospital between January 2013 and March 2014. BRAFV600E mutation analysis was performed using real-time polymerase chain reaction based amplification of DNA extracted from paraffin-embedded tumor specimens. RESULTS: BRAFV600E mutation was detected in 863 (85.5%) patients. In univariate analysis, histologic subtype, extrathyroidal extension, and advanced stage showed significant association with BRAFV600E mutation. In addition, concurrent Hashimoto's thyroiditis showed an association with low prevalence of BRAFV600E mutation. However, no statistically significant association was observed for age, gender, multifocal or bilateral tumor, and lymph node metastasis. Multivariate analysis showed an independent association of extrathyroidal extension with BRAFV600E mutation. CONCLUSION: In this study, extrathyroidal extension of PTC is an independent prognostic factor associated with BRAFV600E mutation status. However, conduct of further large scale studies with long term follow up is required before the BRAF mutation can be conclusively recommended as a prognostic biomarker.
DNA ; Gyeongsangbuk-do ; Humans ; Incidence ; Lymph Nodes ; Multivariate Analysis ; Neoplasm Metastasis ; Prevalence ; Prognosis ; Real-Time Polymerase Chain Reaction ; Thyroid Gland ; Thyroid Neoplasms* ; Thyroiditis

Objective: Recent studies have suggested that deep-learning models can satisfactorily assist in fracture diagnosis. We aimed to evaluate the performance of two of such models in wrist fracture detection. Methods: We collected image data of patients who visited with wrist trauma at the emergency department. A dataset extracted from January 2018 to May 2020 was split into training (90%) and test (10%) datasets, and two types of convolutional neural networks (i.e., DenseNet-161 and ResNet-152) were trained to detect wrist fractures. Gradient-weighted class activation mapping was used to highlight the regions of radiograph scans that contributed to the decision of the model. Performance of the convolutional neural network models was evaluated using the area under the receiver operating characteristic curve. Results: For model training, we used 4,551 radiographs from 798 patients and 4,443 radiographs from 1,481 patients with and without fractures, respectively. The remaining 10% (300 radiographs from 100 patients with fractures and 690 radiographs from 230 patients without fractures) was used as a test dataset. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of DenseNet-161 and ResNet-152 in the test dataset were 90.3%, 90.3%, 80.3%, 95.6%, and 90.3% and 88.6%, 88.4%, 76.9%, 94.7%, and 88.5%, respectively. The area under the receiver operating characteristic curves of DenseNet-161 and ResNet-152 for wrist fracture detection were 0.962 and 0.947, respectively. Conclusion We demonstrated that DenseNet-161 and ResNet-152 models could help detect wrist fractures in the emergency room with satisfactory performance.

Objective: Recent studies have suggested that deep-learning models can satisfactorily assist in fracture diagnosis. We aimed to evaluate the performance of two of such models in wrist fracture detection. Methods: We collected image data of patients who visited with wrist trauma at the emergency department. A dataset extracted from January 2018 to May 2020 was split into training (90%) and test (10%) datasets, and two types of convolutional neural networks (i.e., DenseNet-161 and ResNet-152) were trained to detect wrist fractures. Gradient-weighted class activation mapping was used to highlight the regions of radiograph scans that contributed to the decision of the model. Performance of the convolutional neural network models was evaluated using the area under the receiver operating characteristic curve. Results: For model training, we used 4,551 radiographs from 798 patients and 4,443 radiographs from 1,481 patients with and without fractures, respectively. The remaining 10% (300 radiographs from 100 patients with fractures and 690 radiographs from 230 patients without fractures) was used as a test dataset. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of DenseNet-161 and ResNet-152 in the test dataset were 90.3%, 90.3%, 80.3%, 95.6%, and 90.3% and 88.6%, 88.4%, 76.9%, 94.7%, and 88.5%, respectively. The area under the receiver operating characteristic curves of DenseNet-161 and ResNet-152 for wrist fracture detection were 0.962 and 0.947, respectively. Conclusion We demonstrated that DenseNet-161 and ResNet-152 models could help detect wrist fractures in the emergency room with satisfactory performance.